Canonical Allele Identifier: CA014834
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 43009
ClinVar RCV Id: RCV000995146 RCV001170993 RCV001241747 RCV001841564 RCV002326730 RCV004017302
dbSNP Id: rs397516211
ExAC: 14:23886717 C / T
gnomAD v2: 14-23886717-C-T
gnomAD v3: 14-23417508-C-T
gnomAD v4: 14-23417508-C-T
MyVariant Identifiers: chr14:g.23886717C>T (hg19) chr14:g.23417508C>T (hg38)
PubMed: PMID:22464770
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417508C>T , CM000676.2:g.23417508C>T GRCh38
NC_000014.8:g.23886717C>T , CM000676.1:g.23886717C>T GRCh37
NC_000014.7:g.22956557C>T NCBI36
NG_007884.1:g.23154G>A , LRG_384:g.23154G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4348G>A (MYH7) MANE Select ENSP00000347507.3:p.Asp1450Asn
ENST00000355349.3:c.4348G>A (MYH7) ENSP00000347507.3:p.Asp1450Asn
NM_000257.3:c.4348G>A (MYH7) NP_000248.2:p.Asp1450Asn
NR_126491.1:n.814-25C>T (MHRT)
XM_017021340.1:c.4348G>A (MYH7) XP_016876829.1:p.Asp1450Asn
NM_000257.4:c.4348G>A (MYH7) MANE Select NP_000248.2:p.Asp1450Asn
Search 100 bp 5'
Search 100 bp 3'